Usmle: Biochem: 1St Aid

Front 1

Synthesis of Cholesterol: Enzymes found in Cytosol + SER. Synthesis everywhere esp. Liver, Intestine, Adrenal cortex, Reproductive sys. What regulates it?

Back 1

HMG CoA Reductase;
activated by insulin,
statins competitively inhibit it

Front 2

What are the products of the HMG-CoA Reductase?

Back 2

Mevalonic Acid

Front 3

How is cholesterol broken down?

Back 3

It cannot. it is removed by the body by conversion BILE SALT (not acid). Gut bacteria break it down more.

Front 4

BILE SALTS are made of:

Back 4

type of conjugated BILE ACID: bile salts + phosphatidylcholine

Front 5

Primary bile acid:

Back 5

Chenodeoxycholic acids: can act as emulsifying agents due to Amphiphatic structure

Front 6

Where is BILE ACID synth.?

Back 6

Liver= RLS: Cholesterol-7-alpha-hydroxylase; activated by Cholesterol and self regulated

Front 7

Bacteria in the intestine convert Primary Bile ACID to:

Back 7

Secondary BILE ACID: deoxycholic/lithocholic acids

Front 8

Enterohepatic circulation of Bile:

Back 8

1* Bile Acid --> Gut (bacteria): change into 2* Bile Acid --> actively reabsorbed(95%)--> carried to liver via Albumin via portal vein--> converted back into Bile salts and secreted back into Bile

Front 9

What is Cholelithiasis?

Back 9

too much cholesterol over saturates--> not dissolved by Phosphatidylcholine and Bile salts --> forms gallstones

Front 10

How does Cholelithiasis develop?

Back 10

1.Bile acid not re-ABS
2.obstruction of path
3.kidney dysfunction preventing proper synthesis

Front 11

17-Alpha-Hydroxylase Deficiency

Back 11

1. causes back-up increase: 11-deoxycorticosterone + corticosterone= +++ Na Absorption==>Hypernatremia/hypokalemia/metabolic alkalosis ==> w/o 17-ketosteroids: no sex hormones= No secondary sexual characteristics

Front 12

17-Alpha-Hydroxylase Deficiency==> Pseudohermaphrodite

Back 12

Symptoms: HTN= headaches, tinitus, No menses in females, no external female sexual characteristics
Treated: give them sex steroids

Front 13

5-Alpha-Reductase Deficiency=> Cryptorchidism

Back 13

No DHT= testes do not descend and stay in inguinal canal, urination into peritoneum, small penis ==> Pelvic ultrasound + Sex steroids

Front 14

Acromegaly signs

Back 14

-high GH + Glucose
early: headache + joint pain
later: blurred vision + bitemporal hemianopsia
-large jaw, hands, feet, HTN, oily skin, organomegaly
-young: giant
-old: acromegaly

Front 15

Acromegaly

Back 15

#1: pituitary tumor: acidophilic adenoma; highly eosinophilic + granulocytic
Tx: remove tumor from Pituitary through nose

Front 16

Acromegaly Treatment

Back 16

1. surgery
2. Rx: octreotide or bromocriptine

Front 17

What is the purpose of the Apo-CII that is added to Chylomicrons by HDL?

Back 17

activates Lipoprotein Lipase: makes Glycerol(broken down by liver) and Fatty Acid(used by muscle for energy or stored in adipose): absence= too much chylomicrons (or TG)= Type 1 Hyperlipoproteinemia

Front 18

How does the remnant chylomicron get recognized by the liver before it its phagocytosed?

Back 18

Apo-E

Front 19

1. What carries TG to endothelial cells, adipose?
2. What carries TG to liver?
3. What carries TG to tissues?
4. Reverse CE transport to liver from tissue + removing unesterified cholesterol from endothelial cells?

Back 19

1. Chylomicrons
2. remnant chylomicrons
3. VLDL
4. HDL

Front 20

What is put into the VLDL as TG are removed from it?

Back 20

HDL transfers Cholesteryl Esters by CETP

Front 21

What is the fate of VLDL?

Back 21

VLDL --> LDL --> tissues: if the receptors for LDL are not working= Type II Hyperlipidemia

Front 22

What steroids does the PLACENTA make from cholesterol?

Back 22

Estrogen + Progesterone

Front 23

What effect do Steroids have on DNA?

Back 23

promoter activation --> activate transcription

Front 24

What effect does:
1. LH
2. FSH

Back 24

1. Testes: Testosterone, Ovaries: Estrogen/Progesterone
*************************************
2. Testes: spermatogenesis, Ovaries: Follicle Growth

Front 25

What is the function of Myoglobin which is found in both heart and muscle?

Back 25

1. stores O2
2. carries O2 within muscle cell

Front 26

Shifting of the Oxygen dissociation curve;

Back 26

RIGHT= O2 is released into tissues= low pH, high PCO2, high 2,3-BPG
LEFT= CO =Tx: 100% oxygen

Front 27

Sickle Cell Disease

Back 27

HbS= point mutation= forms polymers= distorts RBC==>
1. anemia(short RBC life)
2. tissue anoxia
3. Pain when further O2 decrease

Front 28

Where do you see FIBRILLAR type I,II, II collagen?

Back 28

tendon, skin, bone, cornea, cartilage, vitreous fluid, blood vessels

Front 29

Which cartilage forms networks:

Back 29

type IV + VII = basement membrane

Front 30

SCURVY from lack of Ascorbic Acid;

Back 30

needed for: Hydroxylation of PROLINE and GLYCINE after they are added to alpha-chains of Collagen

Front 31

COLLAGEN PROBLEMS
1. Ehlers-Danlos Syndrome
2. Osteogenesis Imperfecta

Back 31

1. problem with FIBRILLAR Collage= stretchy skin, loose joints, vascular problems
2. Brittle Bone Disease

Front 32

How is Elastin different from Collagen?

Back 32

Fibrillin + Elastin= Elastic Fibers=rubber=> found in lungs, large arteries, ligaments ==> uses PROLINE/LYSINE: fibrillin mutation= MARFAN SYNDROME

Front 33

Alpha-1-Anti-Trypsin Deficiency

Back 33

A1AT made in LIVER; used in lung to BLOCK Elastase (released from PMN) => absence= lung destruction= EMPHYSEMA= Tx: exogenous A1AT

Front 34

glucose transporter isoforms

Back 34

GLUT-1 : RBC + BRAIN
GLUT-2: Liver
GLUT-4: muscle + Adipose tissue (need Insulin)

Front 35

Glycolysis: Pyruvate Kinase Deficiency

Back 35

Only RBC = chronic hemolytic Anemia = changes kinetics

Front 36

TCA: Pyruvate Dehydrogenase Deficiency

Back 36

Congenital Lactic Acidosis ==> Retardation + Death
Tx: Ketogenic free diet
*Arsenic similar results

Front 37

GlucoNEOgenesis: Where are the substrates coming from?

Back 37

1. Glycerol <-- TG from adipose tissue
2. lactate <--RBC + exercise Skeletal muscle
3. alpha-Ketoacids <--- metabolism of glucogenic AA

Front 38

Glycogen Metabolism: G6P Deficiency --> hypoglycemia

Back 38

Liver cannot make glucose during fasting: Type 1 Glycogen Storage Disease

Front 39

What steps are affected by G6P Deficiency= Von Gierke's (not G6PD Def.) ?

Back 39

Accumulation of Glycogen: Cannot break it down to Glucose
1. Last step of gluconNEOgenesis
2. Glycogen degredation

Front 40

Does fructose need Insulin to enter cells?

Back 40

No

Front 41

Aldolase B Deficiency

Back 41

Cannot eat FRUCTOSE --> death

Front 42

Cells that do not contain Sorbitol Dehydrogenase can result in?

Back 42

Cannot produce Fructose from Sorbitol=> causes osmotic changes:
Retina= cataracts
Schwann Cells= Peripheral Neuropathy
Kidney= nephropathy

Front 43

Uridyltransferase deficieny

Back 43

1. liver damage, retardation, cataracts => accumilation of Galctitol
Tx: No galactose in diet

Front 44

What stimulates the production of Lactose in the mammary glands?

Back 44

Prolactin stimulates alpha-lactalbumin

Front 45

Pentose Phosphate Pathway --> Need it in Liver/mammary glands (for fatty Acid synthesis) + Adrenal Cortex (steroid synth.)+ RBC (keep glutathione reduced = kills free radicals)

Back 45

Makes new NADPH w/o the use of ATP

Front 46

Purpose of NADPH:

Back 46

1. Make Fatty Acids + Steroids
2. Remove Hydrogen Peroxide
3. Cytochrome P450 system
4. Activate Vitamin D
5. Phagocytosis w/o= chronic granulomas
6. NO synthesis

Front 47

G6PD Deficiency => Low NADPH=> Jaundice in babies after birth

Back 47

1. Hemolytic Anemia
2. Heinz Bodies= denatured Hgb
3. Aggravated by: Fava Beans, severe infections, Rx: Anti-malarial drugs
4. Mediterranean is the worst

Front 48

I Cell Disease

Back 48

Inability to add phosphate to the mannose residues in N-linked glycoproteins= cannot destroy proteins in lysosomes= over abundance of lysosomal enzymes in cytoplasm because an inability to get them into the lysosomes

Front 49

In people with CF and neonates where are lipids broken down?

Back 49

1. Linguinal + Gastric Lipases not pancreatic derived lipases

Front 50

What fatty acids must be taken in from the diet?

Back 50

Linoleic (makes arachidonic acid)+ LinoleNic acids(omega-3's=fish)
--------
*Cortisol inhibits Phospholipase A2 (cuts AA) + COX-2 ==> no inflammation
*ASA= blocks COX-1 and COX-2
*Celecoxib= Blocks only COX-2

Front 51

What is the regulated step in Fatty Acid synthesis in the cytosol of liver cells?

Back 51

acetyl CoA carboxylase makes malonyl CoA <== needs BIOTIN
turned on by: Citrate, insulin

Front 52

How are Fatty Acids stored?

Back 52

TG in adipose

Front 53

FA degradation= Beta Oxidation=carnitine shuttle (CPT I and II) ==> deficiency=?

Back 53

CPT I = liver= cannot use fatty chains for energy= hypoglycemia during fasting
CPT II= heart + skeletal muscle = cardiomyopathy + myoglobinemia= weakness during EXERCISE

Front 54

FA degradation= Beta Oxidation= deficiency in Medium-chain fatty acyl CoA dehydrogenase deficiency (MCAD)=?

Back 54

severe hypoglycemia Tx with rich carbs diet

Front 55

What is Methylmalonic Acedemia and Aciduria?

Back 55

No Vitamin B12 for to make succinyl CoA so Methylmalonic CoA builds up= acid = comes from proprionyl-CoA which need Biotin (raw eggs can decrease it)

Front 56

Phospholipids: what is Cardiolipin?

Back 56

found in inner mitochondria= ANTIGENIC = Glycerophospholipid

Front 57

Important lipid of Myelin?

Back 57

Ceramide used to make sphingomyelin

Front 58

What is the major lipid of surfactant?

Back 58

Dipalmitoyllecithin ==> w/o= Respiratory Distress Syndrome by destroying Type II pneumocytes

Front 59

Paroxysmal Nocturnal hemoglobinuria= Acquired

Back 59

Absence of GPI= C3b attacks RBC membrane at night(low pH) =+ Hemolytic diseases= aggravated by Fe++ intake
-dark urine from blood
-pallor from anemia
-Positive Ham's test
-high LDH from RBC destruction
-Hemosiderin: insoluble Hb product
-DVT

Front 60

Inability to breakdown Sphingomyelin because the enzyme is not present increases stores in Brain/BM/Spleen/Liver?

Back 60

Niemann-Pick Disease ==> rapid neurodegeneration in Jewish INFANT=
-large lymphnodes
-large spleen/liver
-cannot see well
-cherry-red spot in macula

Front 61

Glycolipids

Back 61

Antigenic: found in CNS/PNS myelin

Front 62

Ashkenazi Jews

Back 62

1. Niemann-Pick Disease= accumilation Sphingomyelin= No sphingomyelinase
2. Gaucher: accumulation of glucosyl-acylsphingosine= No glucocerebrosidase
3. Tay-Sachs: Ganglioside GM2 accumulation= No Hexosaminidase A

Front 63

Inability to RE-absorb CYSTEINE, ORNITHINE, ARGININE, LYSINE in the PCT of the kidney?

Back 63

CYSTINUREA=
Cystine= kidney stones
Lysine= short stature
Tx: low methionine diet, Penicillamine, water

Front 64

Symptoms of too much ammonia from defect in Urea cycle?

Back 64

inherited= mental retardation
-----
Acquired=
tremors
slurred speech
somnolence
cerebral edema
blurred vision

Front 65

PKU = deficiency in Phenylalanine Hydroxylase or tetrahydrobiopterin=>

Back 65

too much Phenylalanine= Mental retardation=
-cannot talk, walk, grow tall
-hyperactive= sweats= smells "mousy"
-tremor
-small brain
-SEIZURES
----
Tx: Tyrosine which it fails to make, no phenylalanine/Aspartamate diet

Front 66

Accumulation of leucine, isoleucine, valine in blood + urine smells sweet like maple syrup ==> babies cannot feed well, vomiting, dehydrated?

Back 66

Maple Syrup Disease; no "branched-chain" alpha-ketoacid dehydrogenase ==> mental retardation

Front 67

Mental retarded, long arms, long fingers, pectus excavatum, poor visual acuity, osteoporosis, THICK arteries(no fat deposition) in a young child?

Back 67

Homocytinuria ==> No Cystathionine Synthase thromboses are major threat!

Front 68

Dark spots in sclera, ears, chest, nose bridge, back pain, restricted movement, swelling in knee joints, urine turns black when standing up?

Back 68

Alkaptonuria= No Homogentisate oxidase= bad chromosome 3= accumulates HOMOGENTISIC ACID (color)

Front 69

What is the committed step in making Heme?

Back 69

ALA formation by ALA-Synthase: NEEDS: Pyridoxal Phosphate
----
Lead inhibits Ferrochelatase

Front 70

Where is Heme made?

Back 70

Liver: variable source
Bone Marrow

Front 71

Heme synthesis problems= Porphyrias==> AD inheritance==>

Back 71

Sun exposure ==>chronic skin rash in sun exposed areas
________________________
vs. Acquired
Cutanea Porphyria Tarda
-Pesticide exposure= hexachlorobenzene
-Alcohol makes rashes bad
-elevated liver enzymes, urine UROPORPHYRIN, iron levels

Front 72

What happens after HEME is degraded by Macs, packaged into bile and transported by albumin to the GI?

Back 72

heme->biliverdin->bilirubin
---------------------------
Stool: Bile (urobilinogen by bacteria) --> Stercobilin (intestinal bacteria)-> out
urine: Urobilin--> out

Front 73

Types of Jaundice: too much bilirubin

Back 73

1. Hemolytic
2. Obstructive
3. Neonatal: low glucuronylation of bilirubin= no conjugation at early age

Front 74

What is the function of PRPP?

Back 74

Makes:
-purines
-pyramidines
- Purine base salvage from being made into Uric Acid

Front 75

How do Sulfonamides and Trimethoprim work?

Back 75

inhibit PURINE synthesis: prevent the growth of rapidly diving microorganisms

Front 76

Methotrexate

Back 76

inhibits purine synthesis= prevents synthesis dTMP (blocks Thymidylate Synthase which needs THF for methyl-group)= no synthesis of DNA and RNA=> stops spread of CA

Front 77

Lesch-Nyhan Syndrome: No HGPRT= no salvage of Purines=>?

Back 77

High circulating Uric Acid =
joints= GOUT
Brain= involuntary movements
*self-mutilation

Front 78

How can Gout be prevented from being formed?

Back 78

Allopurinol: blocks Xanthine Oxidase

Front 79

What causes Secondary Gout?

Back 79

-chronic renal insufficiency
-myeloproliferative
-alcohol consumption
-purine rich foods
-Von Gierke disease
-fructose intolerance

Front 80

What happens when you accumulate too much ADENOSINE in your body from a lack of Adenosine Deaminase Deficiency?

Back 80

you cannot produce DNA = develop Severe Combined Immunodeficiency Disease= no T cells or B cells

Front 81

CUT Py synthesis requires this step:

Back 81

Carbomoyl Phosphate Synthase II= makes precursors of dUMP so..-->dTMP--> CUT nucleotides

Front 82

What hormones counteract Insulin and its effects?

Back 82

-Glucagon
-Epinephrine
-Cortisol
-GH

Front 83

What are some of the most common symptoms from exogenous insulin treatment?

Back 83

Hypoglycemia which cause:
-confusion
-aberrant behavior
-coma
*made worse by alcohol use which blocks gluconeogenesis

Front 84

What changes occur in the body during a fasting state?

Back 84

Catabolic Period
___________________
Liver: increases Fatty acid oxidation=make acetyl CoA=make ketone bodies= *Feed Brain*
Adipose: breaks down TG= makes more Fatty Acids + Glycerol--> liver
Muscle: protein is broken down= supplies Amino Acids to liver

Front 85

What must be present together to be called DMII?

Back 85

1. Insulin resistance
2. dysfunctional Beta cells = a little insulin is still released preventing ketoacidosis

Front 86

CENTRAL obesity places you at a higher risk for what?

Back 86

-HTN
-Insulin resistance
-DMII
-Dyslipidemia
-CHD

Front 87

What type of macronutrients should compose your daily diet?

Back 87

1/2 = Carbohydrates: provide energy and fiber
1/3= Fat (should be Monosaturated vs. saturated fats): increase HDL and lower C,LDL,TG
1/10= protein: animal is better than plants= better quality

Front 88

What can result in NEGATIVE nitrogen balance?

Back 88

excretions>intake==> Physiological stress=
-trauma
-burns
-illness
-surgery

Front 89

What can result in POSITIVE nitrogen balance?

Back 89

Intake>excretion=> growth:
-children
-pregnancy
-illness recovery

Front 90

What are some disease states that result from bad diets?

Back 90

Kwashiorkor= not enough protein
-------------------------
Marasmus= LOW calorie diet

Front 91

Water Soluble=FOLIC ACID

Back 91

active form= THF
use= make PURINES, Methionine, Thymine
Def: Megaloblastic Anemia + Neural Tube defects
* Can mask Vitamin B12 Def. at high levels
*adults do not get CNS problems

Front 92

Water Soluble=Vitamin B12=no IF

Back 92

use= converts Homocysteine to Methionine, makes succinyl CoA
Def: Pernicious Anemia( weakness,SOB due to less O2 carrying), DEMENTIA, SC degeneration=loss of balance, vibratory sense,
**+Shillings test, hypersegmented PMN
**Adults= IF-Ab

Front 93

Water Soluble=Vitamin C= Ascorbic Acid

Back 93

use: antioxidant, pro-collagen hydroxylation,
Def: Scurvy= poor gums, poor wound healing, loose teeth, XR of knees: groundglass
*see it in: smokers,oncological patients,alcoholics, infants, elderly

Front 94

Water Soluble=Vitamin B6

Back 94

use= cofactor for AA metabolism
Def; Glossitis, neuropathy
* made worse by Isoniazid= used for TB

Front 95

Water soluble=Vitamin B1= THIAMINE

Back 95

use: cofactor in TCA, PPP,
Def:
-BeriBeri= tachycardia, vomiting, convulsions=[dry beribri=demyelination= foot Drop] vs. [wet beriberi=high output heart failure]
-Wernicke-Korsakoff= alcoholics=>
*apathy, memory loss (destruction of hypothalamus, thalamus, mammillary bodies, PV), nystagmus

Front 96

Water Soluble=NIACIN=Nicotinic Acid

Back 96

use= needed to make NADPH
Def;
PELLEGRA= Dermatitis (around neck: neckless), Dementia[demyelination], Diarrhea[GI ulcers], posterior columns become degenerated: loss of sensation of pain/touch
*can treat hyperlipidemia with high doses
*watch out for Carcinoid Syndrome which can use up Tryptophan---> niacin

Front 97

Water Soluble=Vitamin B2=Riboflavin

Back 97

use: TCA cycle
Def; dermatitis + angular stomatitis

Front 98

Fat soluble= Vitamin A

Back 98

use= reproduction, vision, growth, epithelial tissue diff/maint., gene expression
Def:
-Impotence
-night blindness= low rhodopsin= early sign
-retardation of growth
-dry eyes=corneal ulcers=cornea destruction
Tox: bone fractures

Front 99

Fat Soluble= Vitamin D

Back 99

use= calcium uptake
def= Rickets in kids and Osteomalacia in adults==> soft bones

Front 100

Fat Soluble= Vitamin K

Back 100

use= carboxylates glutamate= forms clotting factors= 2,7,9,10
def: newborns>adults*alcoholics*malnutrition= bleeding in knees, gums, vomit
**watch out for Antibiotic use also which can destroy Bac which can make some vitamin K
** long PT/PTT but platelets OK

Front 101

Fat Soluble=Vitamin E

Back 101

use: antioxidant
def: makes RBC weak=> Hemolytic Anemia

Front 102

What two vitamin deficiencies affect the Spinal Cord?

Back 102

Vitamin B12: posterior + lateral columns==> no balance, vibratory, pain, position sense,
________________________________
Niacin: posterior columns==> no sense of pain/touch

Front 103

Xerdoderma Pigmentosum

Back 103

UV light damage cannot be fixed --> impaired endonuclease excision repair mechanism --> SCC

Front 104

Folate Deficiency= need to make DNA/RNA= methyl transfers

Back 104

-NO neurologic signs
-hypersegmented PMN's
-Megaloblastic Anemia
----------------------
Causes:
- alcoholism
-pregnancy
-TMP-SMX
-MTX
-Phenytoin
-proguanil

Front 105

Two microcytic anemias that show low Iron and Hypochromic RBC's can be differentiated via?

Back 105

Iron Def: high Transferrin (transport) + low Ferritin (storage)
------------------------
Chronic Disease: low Transferrin + High Ferritin (stored in macs)

Front 106

Shilling's Test ==> Test for vitamin 12 def. ==>

Back 106

1. inject normal B12 IM + radiolabeled B12 at same time = radiolabeled will be excreted in urine= normal ==> if not then test is repeated with oral IF ==> no pee *B12 then cause of B12 def=
1. Malabsorption Dx: Celiac Dx
2. Whipple's Disease
3. Fish Tape Worm= Diphyllobotrium latum

Front 107

Heinz bodies

Back 107

precipitated Hgb= found inside RBC

Front 108

Bilateral Hemarthrosis= spontaneous => kid

Back 108

Hemophilia A => Prolonged PTT (but NOT PT) => NO FACTOR 8
-----------------------------
Tx: Factor VIII, Desmopressin, Aminocaproic Acid (pre-op)

Front 109

Hemolytic Anemia + Spherocytosis = Hereditary Spherocytosis= bad spectrin => PIGMENT gallstones

Back 109

North European people,
-hemolysis= spleenomeagaly, increase indirect bilirubin

Front 110

COOMB'S TEST= Direct vs. Indirect = test for Ab's against RBC that might cause Hemolysis

Back 110

Direct= agglutination of sample RBC = Ab are bound to RBC surface
--------------------------
Indirect= Test sample Serum for Ab's against RBC= used in pregnancy transfusions

Front 111

Mathemoglobinemia= BlUE baby= oxidized Hgb= cannot carry O2 well

Back 111

HbF more affected than HbA =>

-Induced by: Dapsone, Benzocaine, dyes
-def: NADH mathemegobin reductase
Tx: Methylene Blue + O2

Front 112

Paroxysmal Nocturnal Hemoglobinuria = Test with HAM's TEST= stick RBC's in mild acid= obs. hemolysis==>

Back 112

Hemolysis due to increase compliment binding C3b==> particularly at night when pH is low due to high PCO2 retention==> AM pee is brown-red
*Iron and Heparin might make things worse

Front 113

Skipped beats?

Back 113

Arrhythmias = hypokalemia

Front 114

Renal Tubular Acidosis: body becomes ACIDODIC ==> Type 1 and 2 = weakness =>

Back 114

Type 1= DCT= cannot release H+ => Hyperchloremic-HYPOkalemic
----------------------------
Type 2= PCT= cannot re-abs Bicarb= HYPOkalemic
----------------------------
Type 3= low GFR==> cannot make NH3==> cannot get rid of H+ via NH4+ | K+ is OK
-------------------------
Type 4= HYPOaldosterone= 1* or Rx = cannot abs Na+ so cannot excrete H+ and w/ HYPERkalemia

Front 115

Necrotic Tissue causes hypocalcemia?

Back 115

Yes, it binds to necrotic tissue

Front 116

Young Male=> Cannot walk, cannot get up, proximal muscle weakness, LARGE calves(pseudohypertrophy), GOWER's Sign==>

Back 116

Duchenne's Muscular Dystrophy=> Dystrophin gene problem= sarcolemma is not stabilized during contraction=Very PROGRESSIVE (death)= muscle is eventually replaced with fat

Front 117

Warnicke-Korsakoff Syndrome= Thiamine deficiency= Vitamin B1

Back 117

Warnicke= confusion, ataxia, ophthalmoplegia
-------------------
Korsakoff= retrograde (loss prior to incident) + anterograde (loss since incident) amnesia, CONFABULATION (false memory)

Front 118

-No menstrual period EVER!
-No pubic or axillary hair
-Cervix, uterus is not palpable
-Vagina ends blindly
-Large clitoris

Back 118

-Karyotype: XY, 46
-Undescended testes
-Inability to respond to Testosterone causes increase in T and LH
-Testosterone receptor not responding= Y gene defect
=> Primary Amenorrhea due to Testicular Feminization
==> remove testes b/c malignancy potential

Front 119

A woman with a "lack of menorrhea for several months" who IS PREGNANT presents with these physical findings?

Back 119

-breast enlargement
-cervix becomes SOFT and BLUE
-palpable masses
*LABS= Beta-hCG is +

Front 120

A Woman with a 4 month history of amenorrhea --> ?
-Athlete
-birth control= cycles
-no previous history of "missed" periods
-Beta-hCG is negative
-DECREASED FSH
-bleeding does not stop after Progesterone is added
-No tumor in Sella

Back 120

LOW GnRH= decrease in 15% of weight inhibits hypothalamus= decrease Estrogen= 2* Amenorrhea (but #1 cause is pregnancy)
Advice= gain weight, take oral contraceptive to prevent osteoporosis

Front 121

Inadequate osteoid formation=> Collagen Type 1 disorder:

Back 121

-multiple bone fractures
-poor healing
-Kyphosis + scoliosis
-BLUE sclera
-CONDUCTION DEAFNESS in both ears
-EGGSHELL Cortex= aka thin
**Brittle Bone Disease= Osteogenesis Imperfecta

Front 122

Nausea + Vomiting + Headache + HYPOTENSION in a person with a history binge drinking?

Back 122

elevated levels of Acetaldehyde because Acetaldehyde Dehydrogenase is inhibited by:
1. Alcohol
2. Metronidazole (amebiasis treatment)
3. Cephalosporins
**Antabuse effects

Front 123

Lecithin/sphingomyelin ration less than 2%?

Back 123

Respiratory Distress Syndrome = cyanosis, dyspnea, nasal flaring
-reticular pulmonary infiltrates bilaterally
-atelectasis
Tx; Steroids such as Betamethasone to pregnant moms= stimulates type II pneumocytes to make Surfactant

Front 124

Leukocyte Adhesion deficiency II

Back 124

inability to glycosylate ligands (e.g. SELCETINS)=> no immune cell migration==> recurrent life-threatening infections

Front 125

Strychnine interferes with what NT?

Back 125

Glycine= result is less inhibition=muscle spasms

Front 126

What does glucuronidation acomplish in the liver?

Back 126

makes substrates more water soluble by the addition of glucose

Front 127

Prion disease involves which pleated sheets that are resistant to degredation?

Back 127

Beta= bad= deteriorating dementia + myoclonus

Front 128

Marie-Tooth Disease has a defect in which proteins?

Back 128

Heat Shock Proteins= they are chaperons = Nuromuscular disease

Front 129

Infants + Chloramphenicol(antibiotic)=

Back 129

Gray Baby Syndrome= fatal shock= inability to conjugate glucoronic acid into Rx

Front 130

Dip Stick=

Back 130

measures GLUCOSE via glucose oxidase BUT glucose + fructose + galactose are REDUCED i.e Positive in Benedict's Test

Front 131

Cherry Red mucous membranes + headaches=>

Back 131

CO exposure= high CO-Hgb

Front 132

DEAF (CN8) + Renal failure + cataracts=

Back 132

Alport Syndrome= type 4 collagen problem

Front 133

Sickle Cell Anemia is a result of what type of muation=?

Back 133

Point mutation= Valine(/) replaces Glutamine(+) in BETA-GLOBULIN @ poisiton 6

Front 134

How does a gastrinoma cause diarrhea?

Back 134

gastrin causes an increase in HCL --> lowers the pH which floats down to the Duodenum and denatures enzymes from pancreas= osmotic changes==> diarrhea

Front 135

What is the mechanism by which Acetazolamide (non competitive inhibitor=decrease Vmax) can be used to treat glaucoma (cupping of the optic disc, red eye, non reactive pupil)?

Back 135

prevents further aqueous fluid which decreases pressure intraocular

Front 136

How is the acid secreted from the parietal cells in the stomach become neutrolized?

Back 136

Pancreas releases Bicarbonate in response to "secretin" w/o stimulation= peptic ulcers

Front 137

What is not absorbed in Hartnup's Disease?

Back 137

neutral Amino acids

Front 138

Digestion of these substances results in what absorbable products?

Back 138

Starch= glucose, Lactose= glucose + galactose, sucrose= glucose + fructose

Front 139

Which ENZYME is produced in the gut epithelium?

Back 139

Enteropeptidase= activates Trypsin (cleaves things in the carboxyl end)

Front 140

What enzymes are inhibited by Orlistat?

Back 140

Pancreatic + gastric Lipases

Front 141

What mechanism is used in the absorption of amino acids from the GI?

Back 141

GGT

Front 142

GLUT-1 deficiency= less glucose into CSF=>

Back 142

caues Seizures

Front 143

How is MODY mamanged?

Back 143

Diet= non progressing hyperglycemia= hexokinase defect

Front 144

GLUT-1 vs. GLUT-4

Back 144

GLUT-1= requires NO insulin vs. GLUT-4= requires insulin

Front 145

NADH that is created in the cytosol cannot cross into the mitochondra except through:

Back 145

1. Glycerol Phosphate Shuttle 2. Malate-aspartate shuttle(generates more ATP)

Front 146

Arsenic blocks what?

Back 146

TCA = shows increase levels of pyruvate

Front 147

Pyruvate dehydrogenase deficiency (Acetyl CoA pathway)=>

Back 147

babies poorly feed and ataxia: causes lactic acidosis since TCA is blocked made worse by stressor= aka infection, high carb diet vs. Pyruvate decarboxylase deficiency= also lactic acidosis (oxaloacetate pathway blocked)

Front 148

Rat poinson FLUOROACETATE blocks the TCA cycle and presents with what symptoms?

Back 148

convulsions, cardiac arrhythmias, death

Front 149

What vitamins are the source of these energy mediators=>

Back 149

CoA = Pantothetic Acid= B5, NADH=Niacin, FADH2= B2, PP=B6, TPP= Thiamine

Front 150

What can cause uncoupling of electron transport causing increase body temperature?

Back 150

Cyanide, 2-4 Dintrophenol, Anesthetics (maignant hyperthermia= halothane, ether, methoxyflurane)

Front 151

Chronic granulomatous disease can kill staph or strep?

Back 151

Only STREP (catalase negative= cannot breakdown H2O2)= provides H202 to existing Myeloperoxidase and Cl- ==> makes bleach=kills bacteria vs. Staph which has Catalase which breaks down H202= no bleach

Front 152

What compounds inhibit the various complexes of the ETC?

Back 152

Complex I= barbiturates, Complex III= antimycin, Complex IV= cyanide + CO, Complex V= ATPase= anesthetics

Front 153

Dry cleaner comes in with hepatocelullar necrosis caused by what?

Back 153

CCl4 ==> activated by P450 system

Front 154

Familial ALS (ascending paralysis) is associated with what enzyme defect?

Back 154

SOD= superoxide removal

Front 155

Pompe's Disease= floppy baby= stores glycogen that it cannot break down where?

Back 155

Lysosomes

Front 156

What disease is Specifically related to an inability to make BRANCHES in glycogen in the liver?

Back 156

Anderson Disease

Front 157

Glycogen storage diseases face off==> cannot break it down at?

Back 157

McArdle= muscle, Cori= muscle (dextrin) vs. Pompe= liver

Front 158

Which Glycogen Storage Diseases result in heart problems in addition to liver problems?

Back 158

Von-GIERKE and Pompe

Front 159

F16BP is a key regulatory enzyme inhibited by F2,6BP and ADP?

Back 159

GucoNEOgenesis

Front 160

What are some important POINT mutations that cause cancer?

Back 160

1.Ras = GTPase (oncogene) [normally inactivated by NF-1]
2. P53= DNA repair gene (Rb is not= it inhibits growth)
*** p53 is degraded by E6 and Rb is degraded by E7 ==> come from HPV

Front 161

What mutations are associated with TRANSLOCAITON which lead to CA?

Back 161

-Burkitt Lymphoma= B cells= 8/14
-Mantel Cell Lymphoma= B cells=11/14
-CML=neutrophils= 9/22
-AML=retinoic acid=wbc=15/17

Front 162

What are some common CA and the associated gene mutation?

Back 162

-RET= MEN1(ppp)/MEN2(atp)
-HER2= breast vs. BRCA1/2= breast + ovarian
-WT-1= Willms tumor
-NF-1=neurofibromatosis-1 (schwannomas/acoustic n.)
-APC= colon
-Rb= retinoblastoma/osteosarcoma
-p53(germline)= Li-Fraumeni Syndrome (multiple CA)

Front 163

What are some carcinogens and the CA they develop?

Back 163

-Aniline Dyes= bladder,
-Arsenic= skin,
- Chromium/Ni= lung,
-Vynil chloride= Angiosarcoma of the liver,
-DES= vaginal,
-Nitrosamines= Stomach

Front 164

What CA is associated with Asperigilous secreted Aflotoxin B1?

Back 164

Hepatocellular Cancer= molds in grains of developing countries

Front 165

What CA is EBV associated with?

Back 165

Burkitt lymphoma + Hodgkin Lymphoma + Nasopharyngeal carcinoma

Front 166

Which DNA virus is associated with CA?

Back 166

HBV= hepatocellular= #1 worldwide

Front 167

Which RNA virus is associated with CA?

Back 167

HTLV-1= T Cell Luekemias/lymphomas

Front 168

What CA are associated with DEFECTS in DNA repair?

Back 168

-Ataxia Telangiectasia= ionizaiton vs. Bloome Syndrome= UV vs. XP= UV T-dimers,
-Fanconi anemia= cross-linking repair,
-HNPCC= DNA mismatch repair,

Front 169

What CA are associated with an inability to MISTMATCH DNA REPAIR?

Back 169

BREAST/OVARIAN + HNPCC

Front 170

What blocks VGEF in COLON CA?

Back 170

Avastin

Front 171

What are some common CA MARKERS used to follow the progression of cancers?

Back 171

-CEA= colon,
-hGC=trophoblastic tumors + Testicular vs. Alpha-Feto-Protein= liver + testicular,
-Calcitonin= medullary thyroid,
-CA-125= OVARIAN vs. CA-19= Pancreatic

Front 172

What PREVETNS the BAX influenced release of cytochrome c enzyme from leaving the innner-mitochondria and causing apoptosis in cells?

Back 172

bcl-2 ==> over expressed in FOLLICULAR lymphoma and NOT expressed with HBV

Front 173

What does Warfarin block in vitamin K synthesis of clotting factors 2,7,9,10,C/S?
***babies= no flora= no vit K= bleeding!= require vit K shots at birth

Back 173

blocks NOT gamma-carboxylase BUT EPOXIDE REDUCTASE which converts K2 --> K1(active)
------------
effect= prevents clotting
Vitamin E toxicity can make Warfarin effects greater

Front 174

What is the biochemical function of the various water soluble vitamins?

Back 174

-B1= decarboxylate= TPP
-B2(FADH2) + B3(NAD+)= Redox
-B5=CoA= Acyl transfers
-B6=AST/ALT/B3= transamination
-B12 (methionine) + Folate(DNA)=methylation
----------
-Biotin=ATP/F.A.=carboxylations
-Vit. C= collagen= hydroxylations

Front 175

Why is ZINC so important?

Back 175

A deficiency=>
-poor wound healing
-small testes
-no facial hair
=>cirrhosis

Front 176

What vitamin can chronic alcohol use deplete since it has a short half life in the body?

Back 176

Niacin= Vitamin B3= required for NAD+ synthesis
-----------
Also B6 because you need B6 to make B3 through Tyrptophan
--------
Reason= you use up 2 NAD+ in breaking down Ethanol to Acetate
-----
result= increase NADH= increase Lactate= increase FA synthesis= fatty liver
------
Also High NADH/NAD+ ratio= diverts pyruvate away from gluconeogenesis (low sugar already from not eating)=> hypoglycemia
----
So no Niacin= Pellegra= D,D,D and no B6=hyperirritability

Front 177

What enzyme is important in Glycolysis?

Back 177

1. Hexokinase/Glucokinase (only liver)
2. Phosphofructokinase
3. Pyruvate Kinase
------VS--------
GlucoNEOgenesis =only: liver/kidney/GI epithelium
1. Pyruvate Carboxylase
2. PEP carboxykinase
3. F1,6-BP
4. Glucose-6-Phosphatase

Front 178

What is the enzyme that gets you into the TCA?

Back 178

Citrate Synthase--> alpha-ketoglutarate dehydrogenase

Front 179

What are the different fates of Pyruvate in Glycolysis?

Back 179

1. Lactate
2. Acetyl-CoA
3. Oxaloacetate= requires Biotin
-----
know that Biotin required steps are outside: Glycolysis/TCA
-----
incoming from muscle= Alanine = carries NH3 to Liver= makes Urea and in return Glucose is sent back to muscle==> non-functional urea cycle= ammonia intoxication which depletes alpha-ketoglutarate= no ATP (treat with Arginine a TCA substrate)
-----
Glycolysis is important in these structures:
-RBC, leukocytes, kidney medulla, LENS, testes, CORNEA

Front 180

What vitamin is required for its product to enter the TCA?

Back 180

Methylmalonyl CoA (use Vitamin B12) --> Succinyl CoA

Front 181

What product is used from the UREA cycle to enter the TCA?

Back 181

Fumarate
-------
important enzyme in Urea Cycle=>
**Ornithine Transcarbamylase

Front 182

Where do you need Thiamine VS BIOTIN?

Back 182

Thiamine:
1. Transketolase = HMP shunt entering glycolysis
2. PYRUVATE to Acetyl CoA
3. *TCA= succinyl CoA from FA breakdown
---------VS-------
BIOTIN:
1. making oxaloacetate from glycolysis
2. making Malonyl CoA i.e for FA
3. making methylmalonyl CoA from FA --> TCA

Front 183

What is the main difference between Hexokinase found everywhere and Glucokinase(low affinity/high capacity) found only in the liver?

Back 183

Glucokinase has not feedback inhibition by its product G6P= so its always phosphorylates excess glucose which allow it to enter the cell

Front 184

What is the rate limiting step in Glycolysis?

Back 184

Phosphofructokinase-1
- activated by F2,6-BP => really powerfull = especially during fasting
-----VS-----
irreversible process of:
-Pyruvate Kinase which is activated by: F-1,6-BP
**when PK is not working= hemolytic anemias

Front 185

What two complexes in metabolism use B1, B2, B3 B5 + Lipoic Acid?

Back 185

Glycolysis= Pyruvate Dehydrogenase Complexes= absence=lactic acidosis=neurologic symptoms=Tx: high fat diet( Lysine/Leucine =ketogenic)
-------------+---------
TCA= alpha-ketoglutarate Dehydrogenase Complex
------
Activated by fasting
-----
Arsenic blocks Lipoic Acid= person gets garlic breath, vomits, rice water stools

Front 186

What does the CORI cycle do?

Back 186

Lactate from muscle is shuttled to the liver to make glucose that way the muscle can work without O2
-------
Lactate dehydrogenase is a reversible enzyme

Front 187

What are the different poisons that can act on the Electron Transport Chain?
-Complex I= takes electrons
-Complex II= NO H+ movement
-Complex IV= makes H20
-Complex V= makes ATP

Back 187

- Rotenone/Cyanide/Antimycin A/ CO=> stop electron transport= no H+ gradient/no ATP
-----VS-----
Oligomycin= block ATPase= no ATP made with good H+ gradient
-----VS------
Asprin/2,4-Dintrophenol= uncouple= prevent H+ permeability=no ATP but electron transport continues=> increases heat

Front 188

What are the 2 functions of the HMP shunt?

Back 188

1. Make FA/steroids= Oxidative= not reversible =G6PD
----Vs------
2. Make energy products= non-oxidative

Front 189

How does Fructose accumulation cause Hypoglycemia?

Back 189

blocks glucoNEOgenesis + Glycogenolysis = Aldolase B problem
---
stop SUCROSE intake
----VS---
No Lactose( glucose/galactose) with Galactosemia = increase Galactose-1-P INSIDE cell
----BUT----
if you have Galactokinase Deficiency you increase Galactose in circulation =>>> BOTH leads to Galactitol= toxic

Front 190

Which AA are found in histones that wrap around NEGATIVELY charged DNA?

Back 190

Arg + Lys = basic

Front 191

What is the rate limiting step in the UREA cycle?

Back 191

Carbamoyl phosphate synthase I

Front 192

What is the mechanism for giving Arginine in Hyperammonemia?

Back 192

increases in NH3 can increase the use of alpha-ketoglutarate which halts the TCA cycle and you get a decrease in ATP. You can fix this by giving Arginine which will provoke the UREA CYCLE in the liver to increase urea synthesis but also increase Fumarate byproduct which can enter the TCA and make some ATP

Front 193

What essential amino acid is reduced if you have depigmentation, HYPOthyroidism, and adrenal MEDULLA hypotrophy?

Back 193

Phenylalanine which makes Tyrosine
--------VS------
High levels of Phenylalanine= toxic=>PKU=musty odor with mental retardation at birth==> DO NOT give NUTRA-SEET (a lot of phenylalanine) --BUT-- give them Tyrosine
-----VS----
too much Tyrosine=> Alkaptonuria=> Black pee when standing= benign ==> problem is in breakdown of Tyrosine by Homogentisic acid oxidase
----VS-----
No Melanin= No enzyme (Tyrosinase) or Tyrosine uptake= ALBINISM= issue could be with no NEURAL CREST CELL migration= increase risk of skin cancer

Front 194

What essential AA are you missing if you have Depression, circadian rhythm problems, Dementia, Diarrhea, Dermatitis (Pellegra) or carcinoid Syndrome?

Back 194

Tryptophan -->makes Niacin,Serotonin, Melatonin

Front 195

A deficiency in what AA will cause ANEMIA?

Back 195

Glycine= need it for Heme synthesis

Front 196

What are the causes of Homocytinuria which can cause TALLNESS, retardation, kyphosis, changes in the lens of the eye and EARLY ATHEROSCLEROSIS?

Back 196

Acquired=> You need two vitamin deficiencies Vitamin B12 + B6
--------------------
Genetic deficiencies=
1. Cystathionine synthase
2. Low affinity for B6
3. Methionine synthase
----------------
Treat with high levels of Cysteine =but may cause kidney stones

Front 197

What type of receptor is involved with these hormones?

Back 197

PLC: TRH, GRH, ADH/OXT
------VS--------
cAMP: CRH, LH/FSH, TSH, hCG, V2, Calcitonin, Beta-2, alpha 1/2
-----VS-------
cGMP: ANP, EDRF, NO
---VS-----
TK: insulin. Prolactin, GH, Insulin like Growth hormone
----VS----
Steroids: aldosterone

Front 198

What is Cretinism?

Back 198

Fetal Hypothyroidism= problems with thyroxine formation

Front 199

Biomolecular techniques with DNA==>

Back 199

FISH= fluorescent probe to SPECIFIC GENE of interest= used to localize
----------VS--------
1. Sequencing: Dideoxynucleotides= stops growing strands of DNA=Gel electrophoresis to seperate by size=allows you to read base sequences
2. Allele Specific oligonucleotide probe= specific labeled DNA probe= look for specific mutations
3.Southern Blot= separate DNA with electrophoresis= add label + expose
4. PCR
-----------------VS-------
ELISA= look for antibodies or antigens are present or immune systems reacts to it in blood= very specific
-----------VS-------------
Western Blot= look for proteins by adding known antibodies

Front 200

How does SCID (low T + B lymphocytes) develop= bubble boy?

Back 200

DNA synthesis is inhibited which prevents lymphocytes from being made= cause is a deficiency in ADA which causes an increase in Adenosine which stops DNA synthesis through feedback inhibition
***Purine salvage deficiency****

Front 201

What causes an increase in Uric Acid = Lesch Nyhan Syndrome?

Back 201

usually Purines (guanine) are salvaged but the absence of enzyme(HGPRTase) prevents it and thus are destroyed by Xanthine Oxidase==> SELF MUTILATION, aggresion, GOUT

Front 202

Glucose transport into cells is different varies in what way?

Back 202

GLUT-1= brain, RBC, Kidney, Liver, GI, Cornea= taken up for energy
----VS-----
GLUT-4 + Insulin= storage=> Adipose + Muscle
-------VS-------
GLUT-2= Pancreas=Beta-cells= insulin release
*****
GI has alternative forms of getting Glucose in

Front 203

How is Glycogen controlled?

Back 203

glucose-1-P=> add UDP=> branches=> glycogen
----VS---- phosphorylation=>debranch= glucose-1-P
----------------
Inability to degrade causes Hypoglycemia during fasting=
1. Von Gierke's= no phosphorylation= Large LIVER,
2. Pompe's= alpha-1,4 is not working=HEART gets big,
3. Cori's= alpha-1,6,
4. McArdles= Specific to Skeletal Muscle=PAIN!!!

Front 204

What are the only two XR LYSOSOMAL storage diseases?
***Cerebroside (final product) is needed to make Myelin

Back 204

BOYS ONLY ==>
1. Fabry's = Sphingoliposes,
2. Hunter's= Mucopolysaccharidoses
------VS---- -
the rest which are AR

Front 205

An increase in Heparan Sulfate within Lysosomes can be differientiated in what way?

Back 205

Hurler's= corneal opacities + Gargoylism
---VS---
Hunter's= NO opacities
-----VS----
Metachromic Leukodystrophy= which is Cerebroside Sulfate= Ataxia/Dementia from CNS/PNS demyelination

Front 206

Which is the only Lysosomal storage disease which besides progressive neurodegeneration, hepatospleenomegaly or cherry red spots on feet attacks the BONES?

Back 206

Gaucher's= necrosis of femur w/o infection present

Front 207

What are the shuttles in the inner-mitochondrial membrane invovled with Fatty Acids?

Back 207

Citrate Shuttle=cytoplasm=makes FA=Acetyl-CoA
-------VS-----
Carnitine Shuttle=mitochondria= Beta-Oxidation= Acyl-CoA= non=> toxicity

Front 208

During severe starvation in a person with FRUITY breath which is the ONLY ketone made by the liver via HMG-CoA that can be detected by a URINE TEST?

Back 208

Acetoacetate
-----
NOT= beta-hydroxybutyrate

Front 209

absence in the Apolipoprotein-AI causes an increase in Free Cholesterol and NO HDL. What is it?

Back 209

Tangier's Disease= orange tonsills + large spleen
-------VS------
Absence of LCAT (esterifies cholesterol in VLDL)=> FISH EYES + hemolytic anemia that can cause ESRD
**** AI activates LCAT
------VS-----
no CII or Lipoprotein Lipase=> Familial hyperChylomicronemia= too much cholesterol/TG
---Similar too------
Dysbetalipoproteinemia= also high TG/Cholesterol= NO Apo E

Front 210

What does an excess of chylomicrons, VLDL, IDL, LDL cause to the skin?

Back 210

Eruptive Xanthomas= Yellow papules
-----VS-----
familial hyperCHOLESTEROLemia= no LDL receptor=too much LDL= too much cholesterol=> Achillis Tendon Xanthomas usually with MI in KIDS= sudden death
------VS-----
#1= Mixed Hyper-TG-emia= VLDL clearance/production issues= high VLDL + chylomicrons= high TG + Cholesterol= NO XANTHOMAS

Front 211

What intermediate is accumilated with LEAD poisoning?

Back 211

ALA +COPROporhyrin

Front 212

What intermediates accumilate in the URINE with Acute Intermediate Porphyria in the process of trying to make HEME?

Back 212

Porphobilinogen + gamma-ALA
--------VS-------
Porphyria Cutanea Tarda= Uroporphyrin = tea color pee
----------
Common symptoms= Painful abdomen, Pink Urine, Polyneuropathy, Psych issues, Precipitation of Rx
-----VS----
normal heme breakdown= UROBILIN
----VS---
Poopoo heme= urobilinogen (small amounts in the pee)
------
Obstructive Liver Disease= in urine= high bilirubin + low urobilinogen

Front 213

What is the oxidized form of Hemeglobin which has a higher affnity to CYANIDE?

Back 213

Methemoglobin= Fe+++ =treat with methylene blue make Fe++ again
--------
with cyanide poisoning you want to make more methemoglobin to clean cyanide up=> use NITRATES

Front 214

What is the difference between ACUTE and CHRONIC pancreatitis in regards to enzymes?

Back 214

ACUTE= inapporpiate enzyme activation because of blockage= alcohol/drugs/trauma
------VS-----
CHRONIC= exhaustion of enzyme reserves from repeated bouts of acute pancreatitis

Front 215

What are Factor V Leiden thrombophilia at high risk if they are homozygotes>heterozygotes?

Back 215

DVT at young ages= strong family finding

Front 216

What disease makes a lot of new blood vessels through out the body especially in the RETINA/BRAIN/Spinal Cord?

Back 216

Von-Hippel-Lindau Syndrome=VHL(chromsome 3)= angiomas +hemangioblastomas= BiLATERAL RENAL CELL CARCINOMAS

Front 217

What is the difference between FRUCTOSE intolerance amongst the two known enzymes?

Back 217

Fructokinase= increase circulating fructose= benign
---------VS------
Aldolase B= decrease free phosphate because F-1-P builds up and uses it all up

Front 218

What drugs can be used to treat common overdoses?

Back 218

Organophosphates= Atropine
------
ASPRIN= N-Acetylcystein= works on metabolites
------
Opioids= Nalaxone
------
Heparin= PROTAMIDE= binds to negative-charged heparin
-----
ETOH= use Thiamine first --> saline

Front 219

Chromosomes and associated Diseases=>AUTOSOMAL DOMINANT=>

Back 219

22= neurofibramatosis 2= bilateral juvinal cataracts
----
3= Von-Hippel=Lindau Disease
----
4= Huntington's Disease= low GABA/ACh @ caudate
-----
5= FAP= colon cancer
5=deletion= Cri-Du-chat=retarded meaow
-----
16= Adult Polyc Cystic Kidney Disease= APKD1= bilateral = berry aneurysms
-----
17= Neurofibramatosis 1= cafe-au-lait spots= pigmented eye harmatomas=a lot of tumors=pheochromocytomas= scoliosis